Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia - 15/10/18

Doi : 10.1016/j.ajog.2018.07.017

Ravi Savarirayan, MD ^a, Judith P. Rossiter, MD ^b, Julie E. Hoover-Fong, MD ^c, Melita Irving, MD ^d, Viviana Bompadre, PhD ^e,^⁎ , Michael J. Goldberg, MD ^e,^g, Michael B. Bober, MD ⁱ, Tae-Joon Cho, MD ^k, Shawn E. Kamps, MD ^f,^h, William G. Mackenzie, MD ^j, Cathleen Raggio, MD ^l, Samantha S. Spencer, MD ^m, Klane K. White, MD, MSc ^e,^g
on behalf of the
Skeletal Dysplasia Management Consortium
^a Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, University of Melbourne, Parkville, Australia
^b Department of Obstetrics and Gynecology, University of Maryland St Joseph Medical Center, Towson, MD
^c McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD
^d Department of Clinical Genetics, Guy's and St Thomas, National Health Service, London, United Kingdom
^e Department of Orthopedics and Sports Medicine, Seattle Children’s Hospital, Seattle, WA
^f Department of Radiology, Seattle Children’s Hospital, Seattle, WA
^g Department of Orthopedics and Sports Medicine, University of Washington, Seattle, WA
^h Department of Radiology, University of Washington, Seattle, WA
ⁱ Division of Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE
^j Department of Orthopedic Surgery, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE
^k Division of Pediatric Orthopedics, Seoul National University Children’s Hospital, Seoul, South Korea
^l Department of Orthopedic Surgery, Hospital for Special Surgery, New York, NY
^m Department of Orthopedic Surgery, Boston Children’s Hospital, Boston, MA

^∗Corresponding author: Viviana Bompadre, PhD.

Sous presse. Épreuves corrigées par l'auteur. Disponible en ligne depuis le Monday 15 October 2018
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Abstract

Background

Skeletal dysplasia comprises a heterogeneous and collectively common group of inherited disorders of development, growth, and maintenance of the human skeleton. There is potential for increased perinatal morbidity and mortality in pregnant women who themselves have skeletal dysplasia, and for affected fetuses where skeletal dysplasia is suspected in utero.

Objective

We sought to establish guidelines for perinatal health care professionals who should be aware of these risks, to optimize maternal and child health pregnancy outcomes through best prenatal and delivery management practices.

Study Design

A panel of 13 multidisciplinary international experts participated in a Delphi process, which comprised consideration of thorough literature review and a list of 54 possible care recommendations subject to 2 rounds of anonymous voting and a face-to-face meeting. Those recommendations with >80% agreement were considered as consensual.

Results

During the first round, consensus was reached to support 30 out of the 54 statements. After the panel discussion, the group reached consensus on 40 statements. These statements include guidelines for the evaluation and treatment of pregnant women with skeletal dysplasia and for the unborn child with or suspected to have skeletal dysplasia.

Conclusion

Consensus-based best practice guidelines are provided as a minimum of standard care to minimize associated health risks, and improve clinical outcomes for patients with skeletal dysplasia.

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Key words : perinatal management, prenatal diagnosis, prenatal management, skeletal dysplasia

Plan

Introduction

Materials and Methods

Results

Comment

Pregnancy and delivery in women with skeletal dysplasia

Pregnancy and delivery of newborns suspected with skeletal dysplasia

Prenatal diagnosis of skeletal dysplasia

Considerations for newborns with skeletal dysplasia

Summary

	Financial disclosure
	Unrestricted funding for this meeting was graciously provided by BioMarin Pharmaceutical Inc, Alexion, Growing Stronger Foundation, Ultragenyx Pharmaceutical, Michael Goldberg Skeletal Dysplasia Fund, and Genzyme. Administrative support was provided by Judy Wiles and Shawna Spencer of Facet Communications.
	Disclosure: Dr Savarirayan is a consultant for BioMarin Pharmaceutical, Inc. and Alexion Pharmaceuticals. Dr Hoover-Fong is a paid consultant to BioMarin Pharmaceutical, Inc.–this arrangement has been reviewed and approved by the Johns Hopkins University in accordance with its conflict of interest policies. Dr Bober is a consultant for Ascendis Pharma and Biomarin Pharmaceutical, Inc.; on the speaker’s bureau for Alexion Pharmaceuticals; and is site principal investigator for Shire, Biomarin Pharmaceutical, Inc., Medlife Sciences, Osteogenesis Imperfecta Foundation, Growing Stronger Foundation, Walking with Giants Foundation, Potentials Foundation, and RhizoKids International. Dr Mackenzie belongs to the Little People of America Medical Advisory Board and MPS Medical Advisory Board and received an honorarium from BioMarin Pharmaceutical, Inc. Dr White receives consulting fees, speaker’s honoraria, travel reimbursement, and grant support from Biomarin Pharmaceutical Inc.; speaker’s honoraria and travel reimbursement from Genzyme; royalties from UpToDate.com; and grant support from Alexion and Ultragenyx. The other authors have indicated they have no financial relationships or conflict of interests relevant to this article to disclose.